Status:

RECRUITING

The Myelin Disorders Biorepository Project

Lead Sponsor:

Children's Hospital of Philadelphia

Collaborating Sponsors:

National Institutes of Health (NIH)

National Institute of Neurological Disorders and Stroke (NINDS)

Conditions:

Leukodystrophy

White Matter Disease

Eligibility:

All Genders

Brief Summary

The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projec...

Detailed Description

Genetic white matter disorders (leukodystrophies) are estimated to have an incidence of approximately 1:7000 live births. In the past, patients with white matter disease of unknown cause evaluated by ...

Eligibility Criteria

Inclusion Criteria (Affected Subjects):

  • Male or female of any age;
  • Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems, or in the presence of variant(s) of uncertain significance or genotype consistent with leukodytrophy;
  • Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent;
  • Willingness to provide clinical data, participate in standardized assessments, and/or provide biologic samples.

Exclusion Criteria (Affected Subjects)

  • Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g. multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV;
  • Inability to provide consent.

Inclusion Criteria (Healthy Controls)

  • Male or female of any age;
  • Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain (including affected patients' caregivers);
  • Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.

Exclusion Criteria (Healthy Controls)

- Inability to provide consent.

Key Trial Info

Start Date :

December 8 2016

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

December 8 2030

Estimated Enrollment :

12000 Patients enrolled

Trial Details

Trial ID

NCT03047369

Start Date

December 8 2016

End Date

December 8 2030

Last Update

October 23 2025

Active Locations (23)

Enter a location and click search to find clinical trials sorted by distance.

Page 1 of 6 (23 locations)

1

Children's Hospital of Los Angeles

Los Angeles, California, United States, 90027

2

Children's Hospital of Orange County

Orange, California, United States, 92868

3

Stanford University (Lucile Packard Children's Hospital)

Palo Alto, California, United States, 94304

4

University of California, Davis (UC Davis Health)

Sacramento, California, United States, 95817